Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?

Objective: To study the electroclinical phenotype in 5 patients with large Supernumerary marker chromosome referred as inv dup (15), in an attempt to analyze the electroclinical spectrum in order to determine if the binomial epilepsy-EEG is stereotyped enough to corroborate this challenging diagnosis.Methods: Five patients with large inv dup (15) were submitted to EEG and/or V-EEG, with a minimum duration of 2 h. Two certified neurophysiologists analyzed all EEG tracings simultaneously, blinded to clinical and molecular data. Epilepsy was characterized by detailed history and a standard questionnaire according to International League Against Epilepsy guidelines and corroborated by V-EEG findings.Results: Epilepsy started during infancy in 4 patients, in 3 with spasms. Spasms were easily controlled in one but not in others. Epilepsy evolved with generalized seizures in two patients and, generalized and focal in one. Currently, 3 patients present refractory epilepsy and two are seizure-free. In one patient, only one isolated episode suggestive of a secondary generalized tonic-clonic event occurred at the age of 12 years without recurrence. Regarding the EEG, patients had distinct features, except for two patients with very high amplitude fast activity, resembling recruiting rhythm. Despite good seizure outcome in 3 patients, EEGs remained remarkably abnormal with frequent epileptiform discharges over poorly organized background.Conclusions: Our data showed a heterogeneous electroclinical phenotype with generalized and partial epilepsy, presenting distinct degrees of severity and refractoriness.Significance: Our findings suggest that it is not possible to delineate an electroclinical phenotype in this neurogenetic syndrome. Therefore, inv dup (15) remains as a diagnostic challenge and epilepsy and EEG features are valuable only when inserted in the proper clinical context. (c) 2006 International Federation of Clinical Neurophysiology. Published by Elsevier B.V.. All rights reserved.

Rhodocyclus gelatinosus biomass for egg yolk pigmentation

Biomass of the photosynthetic bacterium Rhodocyclus gelatinosus was used at different levels in laying hens' rations as a xanthophyll source. Sixty-four hens were used in the experiment that investigated the effects of different biomass concentrations on weight gain, egg production, egg weight, and yolk color as compared with a control group that received no biomass supplementation in the ration. Yolk color was scored by means of a color fan. All concentrations tested were able to provide yolk color scores higher than those provided by the control group. The pigment deposition began after 24 h of administration and reached a plateau around the twentieth day. Each increase in the supplementation level led to an additional increase on yolk color scores. Yolk colors of all treatments that received R. gelatinosus biomass differed significantly from the control group and from each other, corroborating that the increase in the biomass supplementation had a positive effect on color increase. Body weight loss occurred in all treatments. Egg production did not increase with the biomass addition, while a significant increase in egg weight was observed in the treatments that received the product.

Evaluation of Rhodocyclus gelatinosus biomass for broiler pigmentation

We evaluated the influence of dietry inclusion of corn gluten meal, apocartenoic acid ethyl ester (APO-EE), canthaxanthin, and Rhodocylus gelatinosus R-1 biomass on broiler carcass color. These oxycarotenoid sources were used as pigment supplements to a basal ration containing yellow corn as the sole source of xnathophylls. Objective color values of L (lightness),C (chroma), and h (hue) were measured on skin and meat surfaces of broiler carcasses. on both surfaces, R. gelatinosus R-1 biomass oxycarotenoids enhanced the chroma values (color saturation), as compared to yellow corn xanthophylls, and tended to provide yellowness to broiler carcasses, whereas the APO-EE and canthaxanthin tended to provide redness. At the concentrations studied, R. gelatinosus R-1 biomass oxycarotenoids were less effective than APO-EE and canthaxanthin in enhancing color saturation. Lightness, chroma, and blue values did not differ significantly between males and females. However, skin showed significantly higher color saturation than meat in breast and thigh portions of the carcass.

Utilisation of bacterial (Rubrivivax gelatinosus) biomass for egg yolk pigmentation

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Isoniazid acetylating phenotype in patients with paracoccidioidomycosis and its relationship with serum sulfadoxin levels, glucose-6-phosphate dehydrogenase and glutathione reductase activities

The authors evaluated the isoniazid acetylating phenotype and measured hematocrit, hemoglobin, glucose-6-phosphate dehydrogenase and glutathione reductase activities plus serum sulfadoxin levels in 39 patients with paracoccidioidomycosis (33 males and 6 females) aged 17 to 58 years. Twenty one (53.84%) of the patients presented a slow acetylating phenotype and 18 (46.16%) a fast acetylating phenotype. Glucose-6-phosphate-dehydrogenase (G6PD) activity was decreased in 5(23.80%) slow acetylators and in 4 (22.22%) fast acetylators. Glutathione reductase activity was decreased in 14 (66.66%) slow acetylators and in 12(66.66%) fast acetylators. Serum levels of free and total sulfadoxin were higher in slow acetylator (p _ 0.02). Analysis of the results permitted us to conclude that serum sulfadoxin levels are related to the acetylator phenotype. Furthermore, sulfadoxin levels were always above 50 μg/ml, a value considered therapeutic. Glutathione reductase deficiency observed in 66% of patients may be related to the intestinal malabsorption of nutrients, among them riboflavin, a FAD precursor vitamin, in patients with paracoceidioidomycosis.

Blepharocheilodontic (BCD) syndrome: Expanding the phenotype?

We describe affected individuals in three generations of a family and another sporadic case, all Brazilian patients, with a combination of signs that diagnose the BCD syndrome. In addition to the cardinal signs, the sporadic case has hypothyroidism and imperforate anus, which was observed previously in one patient. The broadened phenotype and the possibility of involvement of p63 and IRF6 genes in this condition are discussed. © 2003 Wiley-Liss, Inc.

Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

Evaluation of the psychrotrophic specific signatures for cspA gene and 16S rDNA on the phenotype of Bacillus cereus sensu strictu

This study characterised the psychrotrophic genotypes and phenotypes behaviour of 63 strains of Bacillus cereus sensu stricto isolated from dairy products. The presence of the cspA gene signature and the 16S rDNA mesophilic and/or psychrotrophic specific signatures was evaluated. Among the strains, 25 (39.7%) had the cspA gene signature, 38 (60.3%) had both mesophilic and psychrotrophic 16S rDNA signatures, 24 (38.1%) had only mesophilic and one exhibited only psychrotrophic. No strain grew at 7 °C. The results indicate that the presence of psychrotrophic signatures for cspA gene or the 16S rDNA did not ensure a psychrotrophic behaviour on a B. cereus phenotype. © 2013 Society of Dairy Technology.

The Role of Wing Pigmentation, UV and Fluorescence as Signals in a Neotropical Damselfly

Pigmentation patterns, ultraviolet reflection and fluorescent emission are often involved in mate recognition and mate quality functions in many animal taxa. We investigated the role of wing ultra-violet reflection, fluorescence emission, and pigmentation on age and sexual signals in the damselfly Mnesarete pudica. In this species, wings are sexually dimorphic in colour and exhibit age dependency: males and females show a smoky black colouration when young, turning red in mature males while it turns brown in females. First, we investigated wing UV patterns through reflectance and emission spectra. Second, behavioural experiments were undertaken to show male and female responses to manipulated wing pigmentation and experimentally reduced UV (UV-). Reflectance spectra of the wings of juvenile and mature males and females were used to show the differences between controls and individuals with manipulated colouration used in the behavioural experiment. UV-reduced, females with wings painted red, and control males and females were tethered and presented to conspecific males and females, and their behavioral responses were recorded. The male red wing pigmentation and females with red wings elicited an aggressive response in territorial males and a sexual response in females. Both males and females showed neutral responses towards individuals with reduced UV. Wing signals of juvenile individuals also provoked neutral responses. These results suggest that UV, together with pigmentation, plays a role during mate recognition in males and females. Other than butterflies and spiders, it seems that fluorescence signals and UV reflectance can also be part of communication in odonates. © 2013 Springer Science+Business Media New York.

EPA protects against muscle damage in the mdx mouse model of Duchenne muscular dystrophy by promoting a shift from the M1 to M2 macrophage phenotype

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Molecular analysis of three FUT3 gene single nucleotide polymorphisms and their relationship with the lewis erythrocytary phenotype in a human population of japanese-ancestry living in Tomé Açu, a town in the Brazilian Amazon

The Lewis blood group system involves two major antigens, Le^ª and Le^b. Their antigenic determinants are not primary gene products but are synthesized by the transfer of sugar subunits to a precursory chain by a specific enzyme which is the product of the FUT3 gene (Lewis gene). The presence of three FUT3 gene single nucleotide polymorphisms (SNPs) (59T > G; 508G > A and 1067T > A) was related to the Lewis phenotype of erythrocytes from 185 individuals of Japanese ancestry living in the town of Tomé-Açu in the Brazilian Amazon region. This relationship was detected using a serological hemagglutination test and the Dot-ELISA assay along with the molecular technique PCR-RFLP. We found that the three SNPs investigated in this study only accounted for a proportion of the Lewis-negative phenotype of the erythrocytes.

Molecular analysis of three FUT3 gene single nucleotide polymorphisms and their relationship with the lewis erythrocytary phenotype in a human population of japanese-ancestry living in Tomé Açu, a town in the Brazilian Amazon

The Lewis blood group system involves two major antigens, Le^a and Le^b. Their antigenic determinants are not primary gene products but are synthesized by the transfer of sugar subunits to a precursory chain by a specific enzyme which is the product of the FUT3 gene (Lewis gene). The presence of three FUT3 gene single nucleotide polymorphisms (SNPs) (59T > G; 508G > A and 1067T > A) was related to the Lewis phenotype of erythrocytes from 185 individuals of Japanese ancestry living in the town of Tomé-Açu in the Brazilian Amazon region. This relationship was detected using a serological hemagglutination test and the Dot-ELISA assay along with the molecular technique PCR-RFLP. We found that the three SNPs investigated in this study only accounted for a proportion of the Lewis-negative phenotype of the erythrocytes.